The Rare Diseases Foundation supports the Bardet-Biedl France association in the development of its research policy. At the request of the association, the Foundation has coordinated the elaboration of a research project associating the expertise of the Institute of Medical Genetics of Alsace (IGMA Strasbourg - Pr Hélène Dollfus) and of the Institute of Vision (IDV Paris - Pr Deniz Dalkara). The IGMA laboratory has been studying BBS for many years and has highlighted the first pathophysiological characteristics of the disease. Pr Dalkara has developed optimized natural vectors (AAV), capable of acting efficiently on photoreceptors. These innovative AAVs allow a vitreous injection, which is less risky and potentially less toxic than the subretinal injections considered until now. The testing of these AAVs on a mouse model will make it possible to establish a first proof of concept. Financial support for this project was made possible by the tremendous mobilization of the association's volunteers and patrons. Its administrative, scientific and financial follow-up will be carried out, on a voluntary basis, by the Foundation For Rare Diseases.
More information: Laura Benkemoun, Head of research for associations